Incidental Mutation 'R0387:Gorab'
ID 31319
Institutional Source Beutler Lab
Gene Symbol Gorab
Ensembl Gene ENSMUSG00000040124
Gene Name golgin, RAB6-interacting
Synonyms NTKL-BP1, Scyl1bp1
MMRRC Submission 038593-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.366) question?
Stock # R0387 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 163212477-163231238 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 163224403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 133 (V133M)
Ref Sequence ENSEMBL: ENSMUSP00000036253 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045138] [ENSMUST00000186402]
AlphaFold Q8BRM2
Predicted Effect probably benign
Transcript: ENSMUST00000045138
AA Change: V133M

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036253
Gene: ENSMUSG00000040124
AA Change: V133M

DomainStartEndE-ValueType
Pfam:Transcrip_act 128 276 9.3e-11 PFAM
low complexity region 277 301 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185299
Predicted Effect probably benign
Transcript: ENSMUST00000186402
AA Change: V133M

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 85.0%
Validation Efficiency 99% (77/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null gene trap allele exhibit hunched posture, craniofacial abnormalities, neonatal lethality, respiratory distress, skin edema, decreased hair follicles, fewer dermal condensates and papillae, and impaired formation of primary cilia on dermal condensate cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 119,932,075 (GRCm39) probably null Het
Abcc9 T A 6: 142,585,230 (GRCm39) K825* probably null Het
Afp T C 5: 90,645,150 (GRCm39) C189R probably damaging Het
Akap9 T C 5: 4,001,678 (GRCm39) probably benign Het
Alpk3 A T 7: 80,753,975 (GRCm39) T1652S possibly damaging Het
Atg4b C A 1: 93,714,278 (GRCm39) Q354K probably benign Het
Atxn2 T C 5: 121,940,206 (GRCm39) S388P possibly damaging Het
C2cd3 T A 7: 100,071,714 (GRCm39) probably benign Het
Cacna2d2 C A 9: 107,391,080 (GRCm39) T403K probably damaging Het
Cap2 C T 13: 46,713,992 (GRCm39) H79Y probably damaging Het
Car10 G T 11: 93,473,847 (GRCm39) probably null Het
Ccno T C 13: 113,126,401 (GRCm39) L290P probably damaging Het
Cfap69 T C 5: 5,639,303 (GRCm39) K624E probably damaging Het
Ctnna3 A G 10: 64,421,909 (GRCm39) M568V probably benign Het
Cyp1b1 C A 17: 80,021,203 (GRCm39) V180L probably benign Het
Cyp2u1 G T 3: 131,089,201 (GRCm39) probably null Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnm1 C T 2: 32,210,593 (GRCm39) G1S possibly damaging Het
Dnmt1 A G 9: 20,829,509 (GRCm39) L698P probably damaging Het
Dock10 C A 1: 80,517,993 (GRCm39) C1327F probably damaging Het
Dph3b-ps A G 13: 106,683,363 (GRCm39) noncoding transcript Het
Dpyd G A 3: 119,220,875 (GRCm39) D949N probably benign Het
Dync2li1 A G 17: 84,962,768 (GRCm39) K345E possibly damaging Het
Eml2 T A 7: 18,916,184 (GRCm39) probably null Het
Exoc7 A G 11: 116,185,227 (GRCm39) probably benign Het
Faah A T 4: 115,862,889 (GRCm39) C113* probably null Het
Fcf1 T A 12: 85,019,776 (GRCm39) D16E probably benign Het
Fcgbp T C 7: 27,790,879 (GRCm39) probably benign Het
Ghr A G 15: 3,349,373 (GRCm39) S602P probably benign Het
Gm5114 T C 7: 39,058,233 (GRCm39) D462G probably benign Het
Gm8186 T A 17: 26,318,000 (GRCm39) S66C probably damaging Het
Gria1 G A 11: 57,200,710 (GRCm39) probably null Het
Grik1 T A 16: 87,831,238 (GRCm39) probably benign Het
Gtf3c1 A G 7: 125,280,276 (GRCm39) L378P probably damaging Het
Htr5b A T 1: 121,455,275 (GRCm39) V215D probably damaging Het
Htra1 A G 7: 130,581,208 (GRCm39) T319A probably damaging Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Klrb1a A C 6: 128,586,697 (GRCm39) H189Q possibly damaging Het
Lhfpl6 A G 3: 52,950,749 (GRCm39) T8A probably benign Het
Ly75 T A 2: 60,136,748 (GRCm39) Y1493F probably benign Het
Mfsd5 T C 15: 102,189,531 (GRCm39) I301T possibly damaging Het
Mlkl C T 8: 112,059,982 (GRCm39) E135K probably damaging Het
Mrgprx2 A C 7: 48,148,908 (GRCm39) M1R probably null Het
Mroh2a G C 1: 88,173,764 (GRCm39) A871P probably damaging Het
Mtbp A G 15: 55,474,425 (GRCm39) I280V possibly damaging Het
Myo5c A T 9: 75,192,303 (GRCm39) probably benign Het
Nos3 A G 5: 24,572,583 (GRCm39) K174R probably damaging Het
Oas2 A T 5: 120,883,737 (GRCm39) probably benign Het
Or8b40 T A 9: 38,027,066 (GRCm39) probably null Het
Pi4kb G C 3: 94,892,051 (GRCm39) E256Q probably benign Het
Pik3c2a T A 7: 115,972,979 (GRCm39) I739F probably damaging Het
Pla2r1 T A 2: 60,262,945 (GRCm39) K1031N probably benign Het
Plk4 A T 3: 40,767,319 (GRCm39) probably benign Het
Polq T C 16: 36,849,792 (GRCm39) C349R probably damaging Het
Polq G T 16: 36,909,679 (GRCm39) E2354D probably damaging Het
Prss22 A G 17: 24,212,903 (GRCm39) L278P probably damaging Het
Prss3l A G 6: 41,420,303 (GRCm39) I141T possibly damaging Het
Ptprk G A 10: 28,230,625 (GRCm39) V239I possibly damaging Het
Raph1 T G 1: 60,549,655 (GRCm39) probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ripor3 C T 2: 167,825,692 (GRCm39) W755* probably null Het
Rnd3 G T 2: 51,038,243 (GRCm39) D77E probably damaging Het
Ryr1 T C 7: 28,782,792 (GRCm39) probably benign Het
Serpinb1a C T 13: 33,032,721 (GRCm39) V63I probably benign Het
Six1 T G 12: 73,092,815 (GRCm39) Y129S probably damaging Het
Spata31d1a G A 13: 59,851,315 (GRCm39) T271I probably damaging Het
Stab1 T C 14: 30,870,058 (GRCm39) D1387G probably benign Het
Stra6 T A 9: 58,060,466 (GRCm39) M625K probably benign Het
Syne1 T C 10: 5,301,029 (GRCm39) S900G probably benign Het
Tdpoz4 A C 3: 93,704,007 (GRCm39) K101N probably benign Het
Tigd2 T C 6: 59,188,143 (GRCm39) Y337H probably benign Het
Tnxb A G 17: 34,902,548 (GRCm39) I1134V probably benign Het
Tspyl5 A G 15: 33,687,081 (GRCm39) I288T probably damaging Het
Ulk1 A G 5: 110,936,663 (GRCm39) V61A possibly damaging Het
Xxylt1 A G 16: 30,776,194 (GRCm39) Y381H probably benign Het
Zcchc9 T A 13: 91,949,066 (GRCm39) M12L probably benign Het
Zfp106 T C 2: 120,358,953 (GRCm39) probably null Het
Zfp74 T A 7: 29,634,179 (GRCm39) T510S probably benign Het
Zfp808 A G 13: 62,317,292 (GRCm39) T14A probably damaging Het
Other mutations in Gorab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Gorab APN 1 163,222,256 (GRCm39) missense probably damaging 1.00
IGL00915:Gorab APN 1 163,224,426 (GRCm39) missense probably benign 0.00
IGL01645:Gorab APN 1 163,214,000 (GRCm39) missense possibly damaging 0.46
R0504:Gorab UTSW 1 163,214,174 (GRCm39) missense probably damaging 1.00
R0612:Gorab UTSW 1 163,224,738 (GRCm39) missense possibly damaging 0.93
R1863:Gorab UTSW 1 163,231,131 (GRCm39) missense probably damaging 1.00
R1991:Gorab UTSW 1 163,224,625 (GRCm39) missense probably damaging 0.99
R1992:Gorab UTSW 1 163,224,625 (GRCm39) missense probably damaging 0.99
R2844:Gorab UTSW 1 163,224,375 (GRCm39) splice site probably null
R4039:Gorab UTSW 1 163,224,635 (GRCm39) missense possibly damaging 0.65
R4527:Gorab UTSW 1 163,224,705 (GRCm39) missense possibly damaging 0.94
R4864:Gorab UTSW 1 163,213,967 (GRCm39) missense probably benign
R5175:Gorab UTSW 1 163,214,214 (GRCm39) missense probably damaging 1.00
R5470:Gorab UTSW 1 163,220,078 (GRCm39) missense probably damaging 1.00
R5485:Gorab UTSW 1 163,213,871 (GRCm39) missense possibly damaging 0.55
R6265:Gorab UTSW 1 163,214,199 (GRCm39) missense possibly damaging 0.54
R6314:Gorab UTSW 1 163,224,658 (GRCm39) missense probably damaging 1.00
R6355:Gorab UTSW 1 163,214,138 (GRCm39) missense probably damaging 1.00
R7707:Gorab UTSW 1 163,220,009 (GRCm39) missense probably damaging 1.00
R9400:Gorab UTSW 1 163,224,567 (GRCm39) missense probably damaging 0.99
Z1088:Gorab UTSW 1 163,231,119 (GRCm39) nonsense probably null
Z1088:Gorab UTSW 1 163,213,892 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- GGTCTCCAGACTTGACAGCTTCTTC -3'
(R):5'- AAGATGGGTCAGCCTCATTGCTTC -3'

Sequencing Primer
(F):5'- tgacagcttcttccttagcc -3'
(R):5'- AGCCTCATTGCTTCCAGAG -3'
Posted On 2013-04-24